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With a Novel BCOR Mutation and Genomic Rearrangements Involving NHS

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With a Novel BCOR Mutation and Genomic Rearrangements Involving NHS Journal of Human Genetics (2012) 57, 197–201 & 2012 The Japan Society of Human Genetics All rights reserved 1434-5161/12 $32.00 www.nature.com/jhg ORIGINAL ARTICLE A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS Yukiko Kondo1, Hirotomo Saitsu1, Toshinobu Miyamoto2, Kiyomi Nishiyama1, Yoshinori Tsurusaki1, Hiroshi Doi1, Noriko Miyake1, Na-Kyung Ryoo3, Jeong Hun Kim3, Young Suk Yu3 and Naomichi Matsumoto1 Oculofaciocardiodental syndrome (OFCD) is an X-linked dominant disorder associated with male lethality, presenting with congenital cataract, dysmorphic face, dental abnormalities and septal heart defects. Mutations in BCOR (encoding BCL-6- interacting corepressor) cause OFCD. Here, we report on a Korean family with common features of OFCD including bilateral 2nd–3rd toe syndactyly and septal heart defects in three affected females (mother and two daughters). Through the mutation screening and copy number analysis using genomic microarray, we identified a novel heterozygous mutation, c.888delG, in the BCOR gene and two interstitial microduplications at Xp22.2–22.13 and Xp21.3 in all the three affected females. The BCOR mutation may lead to a premature stop codon (p.N297IfsX80). The duplication at Xp22.2–22.13 involved the NHS gene causative for Nance–Horan syndrome, which is an X-linked disorder showing similar clinical features with OFCD in affected males, and in carrier females with milder presentation. Considering the presence of bilateral 2nd–3rd toe syndactyly and septal heart defects, which is unique to OFCD, the mutation in BCOR is likely to be the major determinant for the phenotypes in this family. Journal of Human Genetics (2012) 57, 197–201; doi:10.1038/jhg.2012.4; published online 2 February 2012 Keywords: BCOR; congenital cataract; frameshift mutation; genomic rearrangement; Nance-Horan syndrome; NHS; oculofaciocardiodental syndrome INTRODUCTION site mutations, suggesting that the loss of functions (null allele) might Oculofaciocardiodental syndrome (OFCD, Mendelian Inheritance in result in OFCD. In addition, microdeletions involving BCOR have Man (MIM) #300166), an X-linked dominant disorder, is character- been also reported in individuals with OFCD. Most mutations ized by ocular, facial, cardiac and dental abnormalities associated with predicted to generate premature stop codons, likely suffering from male lethality.1,2 Mutations in the BCL-6 corepressor gene (BCOR, nonsense-mediated mRNA decay, although nonsense-mediated MIM *300485) at Xp11.4 cause OFCD.3 BCOR/Bcor is ubiquitously mRNA decay was unable to be confirmed because of the severe skewed expressed in human tissues and is strongly and specifically expressed X-inactivation in blood leukocytes.3,6 in the eye, brain, neural tube and branchial arches during mouse Nance–Horan syndrome (NHS) is an X-linked cataract-dental embryonic development, which are affected in OFCD.4,5 In 2009, syndrome (MIM #302350) characterized by congenital cataract, dental Hilton et al.6 clinically reviewed 35 cases with BCOR mutations and abnormalities, facial dysmorphism and mental retardation.7 Conge- summarized the frequency of phenotypes: congenital cataract (100%), nital cataract in affected male usually requires early surgery.8 Dental microphthalmia and/or microcornea (82%), facial dysmorphism abnormalities include maxillary and mandibular diastema of both (96%) including long narrow face and high nasal bridge, cardiac central and lateral incisors, and screwdriver-shaped teeth because of anomalies (74%, commonly septal defects), dental abnormalities narrow gingival and incisal margins.9 Carrier females typically display (100%) such as delayed and/or primary dentition, root radiculome- posterior Y-sutural lens opacities, and the dental and facial anomalies galy, and absent/duplicated/fused teeth and mental retardation of the syndrome may be observed, but with a milder presentation.8 (18%).6 Additionally, skeletal abnormalities such as 2nd–3rd toe Mutations in NHS (MIM *300457) at Xp21.1-p22.3 cause NHS.9–11 syndactyly, hammer toes, and radioulnar synostosis are also observed The most pathogenic mutations are truncating mutations. Coccia in 97% patients. Various types of mutations in BCOR have been et al.8 reported complex duplication-triplication rearrangements described including nonsense, small insertions or deletions and splice of the NHS gene in a family with congenital cataract and congenital 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; 2Department of Obstetrics and Gynecology, Asahikawa Medical College, Asahikawa, Japan and 3Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea Correspondence: Dr N Matsumoto, Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan. E-mail: [email protected] Received 3 October 2011; revised 6 December 2011; accepted 5 January 2012; published online 2 February 2012 OFCD with BCOR mutation YKondoet al 198 heart defects in affected males, suggesting that genomic rearrange- ments of NHS are able to cause the X-linked cataract. In this report, mutation screening and genomic microarray revealed a heterozygous mutation in BCOR and genomic rearrangements involving NHS in the three affected females of a Korean family with congenital cataract, dental abnormalities and 2nd–3rd toe syndactyly. Detailed molecular analysis will be presented. MATERIALS AND METHODS Clinical report The Korean family with congenital cataract was previously described (as family 4) (Figure 1a).12 Clinical features are summarized in Table 1. In the elder sister (MC17, the proband), bilateral congenital cataracts were noted 100 days after birth. Bilateral lensectomy and secondary intraocular lens insertion were performed. Ventricular septal defect, atrial septal defect, patent ductus arter- iosus, delayed dentition, bilateral broad halluces, bilateral 2nd–3rd toe syndac- tyly, bilateral hammer toes and right brachyphalangia of fourth toe were also recognized. Mental development was normal. In the younger sister (MC18), bilateral congenital cataracts were also recognized. Bilateral lensectomy and secondary intraocular lens insertion were performed at ages of 2 months and 3 years, respectively. Right inguinal hernia, delayed dentition, and bilateral broad halluces, bilateral 2nd–3rd toe syndactyly, and bilateral hammer toes were noted (Figures 1b and c). She had learning difficulties at school, but IQ was not measured. In the mother (MC17b), bilateral congenital cataracts were noted and left lensectomy was performed at age of 10 years. Because of her dental anomalies and hypodontia, all her teeth were surgically removed. Bilateral 2nd–3rd toe syndactyly and bilateral hammer toes were noted. Her intelligence was normal. All the three affected members shared bilateral congenital cataracts, delayed dentition, bilateral 2nd–3rd toe syndactyly and bilateral hammer toes. Dysmorphic facial features were unseen. DNA sequencing Experimental protocols were approved by Institutional Review Boards for Ethical Issues at Yokohama City University School of Medicine and the Committee for the Ethical Issues on Human Genome and Gene Analysis, Seoul National University. Informed consent was obtained from all individuals. Genomic DNA was obtained from peripheral leukocytes using QIAGEN Blood and Cell Culture DNA Midi Kit (QIAGEN, Hilden, Germany). DNA was Figure 1 Pedigree, foot malformation and a BCOR mutation found in the amplified using GenomiPhi V2 kit (GE healthcare, Buckinghamshire, UK). In family. (a) Familial pedigree. Black and open symbols denote affected and BCOR, there are three isoforms: isoform a (GenBank accession number unaffected individuals, respectively. (b, c) Bilateral broad halluces (the big toe, arrows in b), bilateral 2nd–3rd cutaneous syndactyly (arrowheads in c) NM_017745.5), isoform b (GenBank accession number NM_001123384.1) and bilateral hammer toes in MC18. (d) Schematic representation of the and isoform c (GenBank accession number NM_001123385.1). In NHS,there BCOR gene (top). UTR and coding region are open and filled rectangles, are two isoforms: isoform 1 (GenBank accession number NM_198270.2) and respectively. Alternative splicing by three different isoforms is shown. The isoform 2 (GenBank accession number NM_001136024.2). Nucleotide isoform b is absence of exon 5 and the isoform c is 102bp and 156bp sequences of 1st to 15th exons of BCOR and 1st to 8th exons of NHS covering longer than the isoform a and b, respectively. The location of the c.888delG all the protein coding region as well as exon–intron borders were analyzed. mutation is indicated by an arrow. The protein structure of BCOR (isoform a, Polymerase chain reaction (PCR) conditions and primer information are bottom). Three consecutive ankyrin motifs are indicated as a dark-gray box. shown in Supplementary Table 1. PCR products were purified with ExoSAP The three binding sites for BCL-6, AF9 and NSPC1 are indicated with (USB, Cleveland, OH, USA) and sequenced with BigDye terminator 3.1 horizontal bars. (e) Electropherograms showing the mutation in the affected (Applied Biosystems, Foster City, CA, USA) on 3100 and 3500Âl Genetic patient (MC17b) (top) and a control (bottom). A single nucleotide deletion in Analyzer (Applied Biosystems). Sequences of patients were compared with the exon 4 results in a frameshift. mut, a mutant allele; wt, a wild type allele.
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